A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587813



Internal ID16028536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44771532..44858053hg38UCSC Ensembl
Innerchr21:46191447..46277968hg19UCSC Ensembl
Innerchr21:45015875..45102396hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3886522
hg1986522
hg1886522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151412
Samples1780862444_A
Known GenesPTTG1IP, SUMO3, UBE2G2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587813
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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